Literature DB >> 8775234

Anhidrotic ectodermal dysplasia associated with specific antibody deficiency.

M Abinun, G Spickett, A L Appleton, T Flood, A J Cant.   

Abstract

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Year:  1996        PMID： 8775234     DOI： 10.1007/bf02075774

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome).

Authors:  N Obel; B Hansen; F T Black
Journal:  Clin Genet       Date:  1993-03       Impact factor: 4.438

Review 2.  Primary immunodeficiency diseases. Report of a WHO Scientific Group.

Authors: 
Journal:  Clin Exp Immunol       Date:  1995-01       Impact factor: 4.330

Review 3.  Ectodermal dysplasia.

Authors:  J F Masse; R Pérusse
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791

Review 4.  Anti-capsular polysaccharide antibody deficiency states.

Authors:  G T Rijkers; L A Sanders; B J Zegers
Journal:  Immunodeficiency       Date:  1993

Review 5.  New and old immunodeficiencies.

Authors:  E R Stiehm
Journal:  Pediatr Res       Date:  1993-01       Impact factor: 3.756

6.  Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature.

Authors:  E G Brooks; G R Klimpel; S E Vaidya; S E Keeney; S Raimer; A S Goldman; F C Schmalstieg
Journal:  Clin Immunol Immunopathol       Date:  1994-04
  6 in total
  9 in total

1.  NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Authors:  Magali Audry; Michael Ciancanelli; Kun Yang; Aurelie Cobat; Huey-Hsuan Chang; Vanessa Sancho-Shimizu; Lazaro Lorenzo; Tim Niehues; Janine Reichenbach; Xiao-Xia Li; Alain Israel; Laurent Abel; Jean-Laurent Casanova; Shen-Ying Zhang; Emmanuelle Jouanguy; Anne Puel
Journal:  J Allergy Clin Immunol       Date:  2011-07-01       Impact factor: 10.793

Review 2.  Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Authors:  Bertrand Boisson; Anne Puel; Capucine Picard; Jean-Laurent Casanova
Journal:  J Clin Immunol       Date:  2017-06-09       Impact factor: 8.317

3.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

Review 4.  Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Authors:  Jacinta Bustamante; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

5.  Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

Authors:  Jordan S Orange; Scott R Brodeur; Ashish Jain; Francisco A Bonilla; Lynda C Schneider; Roberto Kretschmer; Samuel Nurko; Wendy L Rasmussen; Julia R Köhler; Stephen E Gellis; Betsy M Ferguson; Jack L Strominger; Jonathan Zonana; Narayanaswamy Ramesh; Zuhair K Ballas; Raif S Geha
Journal:  J Clin Invest       Date:  2002-06       Impact factor: 14.808

Review 6.  Infections in patients with inherited defects in phagocytic function.

Authors:  Timothy Andrews; Kathleen E Sullivan
Journal:  Clin Microbiol Rev       Date:  2003-10       Impact factor: 26.132

7.  The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Authors:  Anne Puel; Janine Reichenbach; Jacinta Bustamante; Cheng-Lung Ku; Jacqueline Feinberg; Rainer Döffinger; Marion Bonnet; Orchidée Filipe-Santos; Ludovic de Beaucoudrey; Anne Durandy; Gerd Horneff; Francesco Novelli; Volker Wahn; Asma Smahi; Alain Israel; Tim Niehues; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2006-02-15       Impact factor: 11.025

8.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Authors:  Eric P Hanson; Linda Monaco-Shawver; Laura A Solt; Lisa A Madge; Pinaki P Banerjee; Michael J May; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

Review 9.  X-linked immunodeficiencies.

Authors:  Hans D Ochs; Luigi D Notarangelo
Journal:  Curr Allergy Asthma Rep       Date:  2004-09       Impact factor: 4.806
  9 in total

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